Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure (Q24298051)

GOA release 2020-03-11

Myocilin

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GOA release 2020-03-11

Edwin M Stone

8

Edwin M

Stone

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9 December 2023

Allan R Shepard

1

Allan R

Shepard

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9 December 2023

Nasreen Jacobson

2

Nasreen

Jacobson

1 reference

9 December 2023

J Cameron Millar

3

J Cameron

Millar

1 reference

9 December 2023

Iok-Hou Pang

4

Iok-Hou

Pang

1 reference

9 December 2023

H Thomas Steely

5

H Thomas

Steely

1 reference

9 December 2023

Charles C Searby

6

Charles C

Searby

1 reference

9 December 2023

Val C Sheffield

7

Val C

Sheffield

1 reference

9 December 2023

Abbot F Clark

9

Abbot F

Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

Clark

1 reference

9 December 2023

language of work or name

English

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publication date

15 March 2007

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published in

Human Molecular Genetics

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volume

16

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issue

6

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page(s)

609-17

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Non-invasive observation of repeated adenoviral GFP gene delivery to the anterior segment of the monkey eye in vivo.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Prediction of peroxisomal targeting signal 1 containing proteins from amino acid sequence

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Aggresomes, inclusion bodies and protein aggregation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Analysis of the carboxyl-terminal peroxisomal targeting signal 1 in a homologous context in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Visualization of the peroxisomal compartment in living mammalian cells: dynamic behavior and association with microtubules.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Identification of a gene that causes primary open angle glaucoma.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Impairment of the ubiquitin-proteasome system by protein aggregation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Import of peroxisomal matrix and membrane proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021

Noninvasive measurement of rodent intraocular pressure with a rebound tonometer.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM001

7 January 2021